IL7R Gene (Protein Coding)

Interleukin 7 Receptor

GC05P035852
GIFtS:
47
The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte developm... See more...

Aliases for IL7R Gene

Aliases for IL7R Gene

  • Interleukin 7 Receptor 2 3 5
  • Interleukin-7 Receptor Subunit Alpha 3 4
  • IL-7 Receptor Subunit Alpha 3 4
  • IL-7R Subunit Alpha 3 4
  • CD127 Antigen 3 4
  • IL-7R-Alpha 3 4
  • CD127 2 3
  • IL7RA 2 3
  • Interleukin 7 Receptor Isoform H5-6 3
  • Interleukin 7 Receptor Alpha Chain 3
  • CDW127 3
  • IL-7RA 4
  • CDw127 4
  • ILRA 3
  • IL7R 5

External Ids for IL7R Gene

Previous GeneCards Identifiers for IL7R Gene

  • GC05P036038
  • GC05P036923
  • GC05P035857
  • GC05P035902
  • GC05P035892

Summaries for IL7R Gene

Entrez Gene Summary for IL7R Gene

  • The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]

CIViC Summary for IL7R Gene

GeneCards Summary for IL7R Gene

IL7R (Interleukin 7 Receptor) is a Protein Coding gene. Diseases associated with IL7R include Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive and Severe Combined Immunodeficiency. Among its related pathways are AKT Siganaling Pathway and IL-7 Signaling Pathway. Gene Ontology (GO) annotations related to this gene include antigen binding and interleukin-7 receptor activity. An important paralog of this gene is IL21R.

UniProtKB/Swiss-Prot Summary for IL7R Gene

  • Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).

Gene Wiki entry for IL7R Gene

Additional gene information for IL7R Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL7R Gene

Genomics for IL7R Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IL7R Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05J035851 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 636.9 +5.3 5299 12.4 RFX1 BACH1 RELA TCF12 IKZF2 TRIM22 YY1 PKNOX1 EED DPF2 IL7R ENSG00000248969 CAPSL ENSG00000249748 RNU7-130P LMBRD2 SPEF2 LOC105374724
GH05J035852 Promoter/Enhancer 0.6 Ensembl dbSUPER 600.7 -1.4 -1394 0.6 GATA3 IL7R ENSG00000248969 LOC105374724 SPEF2
GH05J035809 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 26.4 -28.7 -28694 30 CREB1 CTCF RFX1 KDM1A JUND IKZF2 SCRT2 ZBTB20 DPF2 CEBPB IL7R CAPSL ENSG00000249748 RNU7-130P SPEF2 NADK2 LMBRD2 ENSG00000248969 LOC105374724 RF00017-4573
GH05J035670 Enhancer 0.7 FANTOM5 Ensembl ENCODE 27.3 -180.8 -180794 6.2 MTA2 SPI1 IL7R SPEF2 RANBP3L RF00066-149 RNU7-130P lnc-CAPSL-3
GH05J035796 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 21.1 -55.4 -55411 1.4 ZSCAN4 YY1 PKNOX1 SOX13 SCRT1 ZNF3 IL7R SPEF2 RF00017-4573 ENSG00000248969 LOC105374724
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL7R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL7R

Top Transcription factor binding sites by QIAGEN in the IL7R gene promoter:
  • AML1a

Genomic Locations for IL7R Gene

Genomic Locations for IL7R Gene
chr5:35,852,695-35,879,603
(GRCh38/hg38)
Size:
26,909 bases
Orientation:
Plus strand
chr5:35,852,797-35,879,705
(GRCh37/hg19)
Size:
26,909 bases
Orientation:
Plus strand

Genomic View for IL7R Gene

Genes around IL7R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL7R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL7R Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IL7R Gene

Proteins for IL7R Gene

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  • Protein details for IL7R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16871-IL7RA_HUMAN
    Recommended name:
    Interleukin-7 receptor subunit alpha
    Protein Accession:
    P16871
    Secondary Accessions:
    • B2RCS6
    • B4DVT1
    • Q05CU8
    • Q6NSP4
    • Q6NWM0
    • Q6NWM1
    • Q6NWM2
    • Q6NWM3
    • Q6SV45
    • Q9UPC1

    Protein attributes for IL7R Gene

    Size:
    459 amino acids
    Molecular mass:
    51579 Da
    Quaternary structure:
    • The IL7 receptor is a heterodimer of IL7R and IL2RG. The TSLP receptor is a heterodimer of CRLF2 and IL7R.
    SequenceCaution:
    • Sequence=AAH20717.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IL7R Gene

    Alternative splice isoforms for IL7R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL7R Gene

Protein Expression for IL7R Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IL7R Gene

  • N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form.
  • Glycosylation at Asn49, Asn65, Asn151, Asn182, Asn232, and Asn233
  • Modification sites at PhosphoSitePlus

Other Protein References for IL7R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for IL7R

No data available for DME Specific Peptides for IL7R Gene

Domains & Families for IL7R Gene

Gene Families for IL7R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IL7R Gene

InterPro:
Blocks:
  • Short hematopoietin receptor, family 1
ProtoNet:

Suggested Antigen Peptide Sequences for IL7R Gene

GenScript: Design optimal peptide antigens:
  • Interleukin-7 receptor (F6IQ79_HUMAN)
  • Interleukin-7 receptor (F6IQ80_HUMAN)
  • CDw127 (IL7RA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16871

UniProtKB/Swiss-Prot:

IL7RA_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
Family:
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
genes like me logo Genes that share domains with IL7R: view

Function for IL7R Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for IL7R Gene

UniProtKB/Swiss-Prot Function:
Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
GENATLAS Biochemistry:
interleukin 7,receptor (see IL2RG),with a membrane bound and an alternatively spliced secreted form

Phenotypes From GWAS Catalog for IL7R Gene

Gene Ontology (GO) - Molecular Function for IL7R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding TAS 9495344
GO:0004896 cytokine receptor activity IDA 11418668
GO:0004917 interleukin-7 receptor activity TAS 8266077
GO:0005515 protein binding IEA,IPI 8266077
genes like me logo Genes that share ontologies with IL7R: view
genes like me logo Genes that share phenotypes with IL7R: view

Human Phenotype Ontology for IL7R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL7R Gene

MGI Knock Outs for IL7R:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL7R

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL7R Gene

Localization for IL7R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL7R Gene

[Isoform 1]: Cell membrane. Single-pass type I membrane protein.
[Isoform 3]: Cell membrane. Single-pass type I membrane protein.
[Isoform 4]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL7R gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Centriolar satellite (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IL7R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IL7R: view

Pathways & Interactions for IL7R Gene

PathCards logo

SuperPathways for IL7R Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Glucocorticoid Receptor Signaling
.43
Cytokine-cytokine receptor interaction
.43
2 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
3 JAK-STAT signaling pathway
JAK-STAT signaling pathway
.30
IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types
.01
B-Cell Development
.01
4 Akt Signaling
Akt Signaling
.60
p38 Signaling
.60
Tec Kinases Signaling
.55
5 Jak Stat Signaling Pathway
Commom Cytokine Receptor G Chain Siganaling Pathway
.47
Jak Stat Signaling Pathway
.47
genes like me logo Genes that share pathways with IL7R: view

SIGNOR curated interactions for IL7R Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IL7R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000018 regulation of DNA recombination TAS 9495344
GO:0000902 cell morphogenesis IEA --
GO:0001915 negative regulation of T cell mediated cytotoxicity IEA --
GO:0002377 immunoglobulin production IEA --
GO:0006955 immune response TAS 9843216
genes like me logo Genes that share ontologies with IL7R: view

Drugs & Compounds for IL7R Gene

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  1. Drug

(5) Drugs for IL7R Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CYT-107 Pharma 0

(4) Additional Compounds for IL7R Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL7R: view

Transcripts for IL7R Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IL7R Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL7R

Alternative Splicing Database (ASD) splice patterns (SP) for IL7R Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b
SP1: - -
SP2: -
SP3:
SP4:

Relevant External Links for IL7R Gene

GeneLoc Exon Structure for
IL7R

Expression for IL7R Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IL7R Gene

mRNA expression in normal human tissues for IL7R Gene
mRNA expression by GTEx for IL7R GenemRNA expression by BioGPS for IL7R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL7R Gene

This gene is overexpressed in Whole Blood (x11.1), Lung (x8.1), Small Intestine - Terminal Ileum (x7.0), and Spleen (x5.3).

Protein differential expression in normal tissues from HIPED for IL7R Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.8) and CD4 Tcells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IL7R Gene



Protein tissue co-expression partners for IL7R Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL7R

SOURCE GeneReport for Unigene cluster for IL7R Gene:

Hs.591742

Evidence on tissue expression from TISSUES for IL7R Gene

  • Spleen(4.8)
  • Blood(4)
  • Lymph node(3.8)
  • Intestine(3.5)
  • Bone marrow(3.4)
  • Lung(3.4)
  • Skin(2.9)
  • Liver(2.9)
  • Heart(2.7)
  • Kidney(2.5)
  • Nervous system(2.3)
  • Stomach(2.3)
  • Thyroid gland(2.3)
  • Bone(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL7R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • middle ear
Thorax:
  • lung
  • thymus
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IL7R: view

No data available for mRNA Expression by UniProt/SwissProt for IL7R Gene

Orthologs for IL7R Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL7R Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia IL7R 30 31
  • 99.35 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IL7R 30 31
  • 83.52 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IL7R 30 31
  • 82.46 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Il7r 30
  • 75.37 (n)
Mouse
(Mus musculus)
 Mammalia Il7r 30 17 31
  • 74.56 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia IL7R 31
  • 50 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia IL7R 31
  • 49 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IL7R 30 31
  • 52.87 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia IL7R 31
  • 31 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii il7r 31
  • 25 (a)
 OneToOne
Species where no ortholog for IL7R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IL7R Gene

ENSEMBL:
Gene Tree for IL7R (if available)
TreeFam:
Gene Tree for IL7R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL7R: view image

Paralogs for IL7R Gene

Paralogs for IL7R Gene

genes like me logo Genes that share paralogs with IL7R: view

Variants for IL7R Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL7R Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
636507 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; not provided 35,876,109(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
636576 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; not provided 35,874,514(+) A/T MISSENSE_VARIANT
640107 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 35,873,653(+) G/C INTRON_VARIANT
640639 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 35,860,925(+) GC/TT MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
642164 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 35,874,519(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IL7R Gene

Structural Variations from Database of Genomic Variants (DGV) for IL7R Gene

Variant ID Type Subtype PubMed ID
esv3570069 CNV loss 25503493
esv3604707 CNV gain 21293372
nsv471011 CNV gain 18288195
nsv483069 CNV gain 15286789
nsv597813 CNV gain 21841781
nsv597814 CNV loss 21841781
nsv597815 CNV loss 21841781
nsv830261 CNV gain 17160897

Variation tolerance for IL7R Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL7R Gene

Human Gene Mutation Database (HGMD)
IL7R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL7R

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL7R Gene

Disorders for IL7R Gene

MalaCards: The human disease database

(39) MalaCards diseases for IL7R Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
  • scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
omenn syndrome
  • os
t cell deficiency
  • t-lymphocyte deficiency
multiple sclerosis
  • multiple sclerosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search IL7R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IL7RA_HUMAN
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269 PubMed:11023514, ECO:0000269 PubMed:9843216}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple sclerosis 3 (MS3) [MIM:612595]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. {ECO:0000269 PubMed:17660817}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A polymorphism at position 244 strongly influences susceptibility to multiple sclerosis. Overtransmission of the major 'C' allele coding for Thr-244 is detected in offspring affected with multiple sclerosis. In vitro analysis of transcripts from minigenes containing either 'C' allele (Thr-244) or 'T' allele (Ile-244) shows that the 'C' allele results in an approximately two-fold increase in the skipping of exon 6, leading to increased production of a soluble form of IL7R. Thus, the multiple sclerosis associated 'C' risk allele of IL7R would probably decrease membrane-bound expression of IL7R. As this risk allele is common in the general population, some additional triggers are probably required for the development and progression of MS.

Additional Disease Information for IL7R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IL7R: view

No data available for Genatlas for IL7R Gene

Publications for IL7R Gene

  1. Haplotype 4 of the multiple sclerosis-associated interleukin-7 receptor alpha gene influences the frequency of recent thymic emigrants. (PMID: 20072142) Broux B … Stinissen P (Genes and immunity 2010) 3 23 41
  2. Structural and biophysical studies of the human IL-7/IL-7Ralpha complex. (PMID: 19141282) McElroy CA … Walsh ST (Structure (London, England : 1993) 2009) 3 4 23
  3. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. (PMID: 17660817) Gregory SG … Multiple Sclerosis Genetics Group (Nature genetics 2007) 3 4 41
  4. Risk alleles for multiple sclerosis identified by a genomewide study. (PMID: 17660530) International Multiple Sclerosis Genetics Consortium … Hauser SL (The New England journal of medicine 2007) 3 23 41
  5. Genetic polymorphisms in the genes encoding human interleukin-7 receptor-alpha: prognostic significance in allogeneic stem cell transplantation. (PMID: 16435014) Shamim Z … Müller K (Bone marrow transplantation 2006) 3 23 41

ExternalLinks

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